A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040584



Internal ID18952720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21450287..21628051hg38UCSC Ensembl
Outerchr22:21373849..21633730hg38UCSC Ensembl
Innerchr22:21804576..21982340hg19UCSC Ensembl
Outerchr22:21728138..21988019hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38259882
hg19259882
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160730
Supporting Variants
Samples
Known GenesCCDC116, HIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3, YDJC
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nssv4040584
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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